Jenkins Sabrina Malone, Palmquist Rachel, Shayota Brian J, Solorzano Chelsea M, Bonkowsky Joshua L, Estabrooks Paul, Tristani-Firouzi Martin
Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Pediatr Res. 2025 Mar;97(4):1261-1268. doi: 10.1038/s41390-025-03859-8. Epub 2025 Jan 16.
The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced. This review seeks to summarize the barriers responsible for delayed diagnosis and treatment, and examines diverse care models, technological innovations, and strategies for dissemination and implementation aimed at addressing the evolving genomic needs of pediatric populations. Through a comprehensive review of the literature, we explore proposed methodologies to bridge this gap in pediatric healthcare, with a specific emphasis on understanding and speeding implementation approaches and technologies to mitigate disparities in underserved populations, including rural and marginalized communities. There are both external and internal factors to consider in demographic and social determinants when evaluating patient access. To address these barriers, potential solutions include telegenetic services, alternative care delivery models, pediatric subspecialist expansion, and non-genetic provider education. By improving access to pediatric genomic services, therapeutic interventions will also be more available to all pediatric patients. IMPACT STATEMENT: Genomic testing has clinical utility in pediatric populations but access for people from diverse demographic and social-economic groups is problematic. Understanding barriers responsible for delayed genetic diagnosis and treatment in pediatric populations will improve reach, adoption, implementation, and maintenance of genomic medicine in pediatric healthcare context. Innovative care models, adaptation of appropriate technologies, and strategies aimed at addressing pediatric genomic needs are needed.
将基因组医学融入儿科临床实践是一项迫切需求,但在很大程度上仍未得到满足,尤其是在社会经济条件较差的农村地区,那里的医疗保健差距最为明显。本综述旨在总结导致诊断和治疗延迟的障碍,并审视各种护理模式、技术创新以及旨在满足儿科人群不断变化的基因组需求的传播和实施策略。通过对文献的全面综述,我们探索了弥合儿科医疗保健这一差距的建议方法,特别强调理解和加速实施方法及技术,以减少包括农村和边缘化社区在内的服务不足人群的差距。在评估患者获得医疗服务的机会时,人口统计学和社会决定因素方面既有外部因素也有内部因素需要考虑。为克服这些障碍,潜在的解决方案包括远程基因服务、替代护理提供模式、儿科专科医生扩充以及对非基因专业医疗人员的教育。通过改善儿科基因组服务的可及性,所有儿科患者也将更易获得治疗干预。影响声明:基因组检测在儿科人群中具有临床实用性,但不同人口统计学和社会经济群体的获取机会存在问题。了解导致儿科人群基因诊断和治疗延迟的障碍将改善基因组医学在儿科医疗保健环境中的覆盖范围、采用率、实施情况和维持情况。需要创新的护理模式、适配适当的技术以及旨在满足儿科基因组需求的策略。